Myelodysplastic syndrome and multiple solid tumours in an individual with compound heterozygous deleterious FANCM variants: A case report and review of the literature

被引:0
作者
Ng, Jun Yen [1 ]
Warwick, Linda [2 ]
Craft, Paul [3 ]
Austen, Lynette [4 ]
Ashford, Bruce [5 ]
Gorddard, Nicole [3 ]
Ballinger, Mandy L. [6 ]
Thomas, David M. [6 ]
Blombery, Piers [7 ]
Tucker, Kathy [8 ]
Polizzotto, Mark N. [1 ]
机构
[1] Canberra Hosp, Dept Haematol, Canberra, ACT, Australia
[2] Canberra Hosp, ACT Genet Serv, Canberra, ACT, Australia
[3] Canberra Hosp, Dept Oncol, Canberra, ACT, Australia
[4] Canberra Hosp, Dept Radiat Oncol, Canberra, ACT, Australia
[5] Wollongong Hosp, Dept Surg, Wollongong, NSW, Australia
[6] Garvan Inst Med Res, Canc Theme, Darlinghurst, NSW, Australia
[7] Peter MacCallum Canc Ctr, Dept Haematol, Melbourne, Australia
[8] Prince Wales Hosp, Hereditary Canc Clin, Randwick, NSW, Australia
关键词
MUTATIONS; ANEMIA; CANCER;
D O I
10.1111/bjh.19059
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:481 / 484
页数:4
相关论文
共 11 条
[1]   Biallelic truncating &ITFANCM&IT mutations cause early-onset cancer but not Fanconi anemia [J].
Bogliolo, Massimo ;
Bluteau, Dominique ;
Lespinasse, James ;
Pujol, Roser ;
Vasquez, Nadia ;
d'Enghien, Catherine Dubois ;
Stoppa-Lyonnet, Dominique ;
Leblanc, Thierry ;
Soulier, Jean ;
Surralles, Jordi .
GENETICS IN MEDICINE, 2018, 20 (04) :458-463
[2]   Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility [J].
Catucci, Irene ;
Osorio, Ana ;
Arver, Brita ;
Neidhardt, Guido ;
Bogliolo, Massimo ;
Zanardi, Federica ;
Riboni, Mirko ;
Minardi, Simone ;
Pujol, Roser ;
Azzollini, Jacopo ;
Peissel, Bernard ;
Manoukian, Siranoush ;
De Vecchi, Giovanna ;
Casola, Stefano ;
Hauke, Jan ;
Richters, Lisa ;
Rhiem, Kerstin ;
Schmutzler, Rita K. ;
Wallander, Karin ;
Torngren, Therese ;
Borg, Ake ;
Radice, Paolo ;
Surralles, Jordi ;
Hahnen, Eric ;
Ehrencrona, Hans ;
Kvist, Anders ;
Benitez, Javier ;
Peterlongo, Paolo .
GENETICS IN MEDICINE, 2018, 20 (04) :452-457
[3]   Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM [J].
Ciccia, Alberto ;
Ling, Chen ;
Coulthard, Rachel ;
Yan, Zhijiang ;
Xue, Yutong ;
Meetei, Amom Ruhikanta ;
Laghmani, El Houari ;
Joenje, Hans ;
McDonald, Neil ;
de Winter, Johan P. ;
Wang, Weidong ;
West, Stephen C. .
MOLECULAR CELL, 2007, 25 (03) :331-343
[4]   Fanconi Anemia Gene Variants in Patients with Gonadal Dysfunction [J].
Daum, Hagit ;
Zlotogora, Joel .
REPRODUCTIVE SCIENCES, 2022, 29 (05) :1408-1413
[5]   FANCM Connects the Genome Instability Disorders Bloom's Syndrome and Fanconi Anemia [J].
Deans, Andrew J. ;
West, Stephen C. .
MOLECULAR CELL, 2009, 36 (06) :943-953
[6]   Fanconi-like anemia related to a FANCM mutation [J].
Encarnacion, J. A. ;
Cerezuela, P. ;
Espanol, I ;
Garcia, M. R. ;
Manso, C. ;
De la Fuente, I ;
Garrigos, N. ;
Viney, A. ;
Minguillon, J. ;
Surralles, J. .
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (01)
[7]   The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer [J].
Figlioli, Gisella ;
Bogliolo, Massimo ;
Catucci, Irene ;
Caleca, Laura ;
Viz Lasheras, Sandra ;
Pujol, Roser ;
Kiiski, Johanna, I ;
Muranen, Taru A. ;
Barnes, Daniel R. ;
Dennis, Joe ;
Michailidou, Kyriaki ;
Bolla, Manjeet K. ;
Leslie, Goska ;
Aalfs, Cora M. ;
Adank, Muriel A. ;
Adlard, Julian ;
Agata, Simona ;
Cadoo, Karen ;
Agnarsson, Bjarni A. ;
Ahearn, Thomas ;
Aittomaki, Kristiina ;
Ambrosone, Christine B. ;
Andrews, Lesley ;
Anton-Culver, Hoda ;
Antonenkova, Natalia N. ;
Arndt, Volker ;
Arnold, Norbert ;
Aronson, Kristan J. ;
Arun, Banu K. ;
Asseryanis, Ella ;
Auber, Bernd ;
Auvinen, Paivi ;
Azzollini, Jacopo ;
Balmana, Judith ;
Barkardottir, Rosa B. ;
Barrowdale, Daniel ;
Barwell, Julian ;
Freeman, Laura E. Beane ;
Beauparlant, Charles Joly ;
Beckmann, Matthias W. ;
Behrens, Sabine ;
Benitez, Javier ;
Berger, Raanan ;
Bermisheva, Marina ;
Blanco, Amie M. ;
Blomqvist, Carl ;
Bogdanova, Natalia, V ;
Bojesen, Anders ;
Bojesen, Stig E. ;
Bonanni, Bernardo .
NPJ BREAST CANCER, 2019, 5 (1)
[8]   Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer [J].
Neidhardt, Guido ;
Hauke, Jan ;
Ramser, Juliane ;
Gross, Eva ;
Gehrig, Andrea ;
Mueller, Clemens R. ;
Kahlert, Anne-Karin ;
Hackmann, Karl ;
Honisch, Ellen ;
Niederacher, Dieter ;
Heilmann-Heimbach, Stefanie ;
Franke, Andre ;
Lieb, Wolfgang ;
Thiele, Holger ;
Altmueller, Janine ;
Nuernberg, Peter ;
Klaschik, Kristina ;
Ernst, Corinna ;
Ditsch, Nina ;
Jessen, Frank ;
Ramirez, Alfredo ;
Wappenschmidt, Barbara ;
Engel, Christoph ;
Rhiem, Kerstin ;
Meindl, Alfons ;
Schmutzler, Rita K. ;
Hahnen, Eric .
JAMA ONCOLOGY, 2017, 3 (09) :1245-1248
[9]   Severe chemotherapy toxicity in a 10-year-old with T-acute lymphoblastic lymphoma harboring biallelic FANCM variants [J].
Ryland, Georgina L. ;
Fox, Lucy C. ;
Wootton, Virginia ;
Thompson, Ella R. ;
Lickiss, Jennifer ;
Trainer, Alison H. ;
Barbaro, Paddy ;
Whyte, Morag ;
Ritchie, David ;
Blombery, Piers .
LEUKEMIA & LYMPHOMA, 2020, 61 (05) :1257-1259
[10]   The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants [J].
Schubert, Stephanie ;
van Luttikhuizen, Jana L. ;
Auber, Bernd ;
Schmidt, Gunnar ;
Hofmann, Winfried ;
Penkert, Judith ;
Davenport, Colin F. ;
Hille-Betz, Ursula ;
Wendeburg, Lena ;
Bublitz, Janin ;
Tauscher, Marcel ;
Hackmann, Karl ;
Schroeck, Evelin ;
Scholz, Caroline ;
Wallaschek, Hannah ;
Schlegelberger, Brigitte ;
Illig, Thomas ;
Steinemann, Doris .
INTERNATIONAL JOURNAL OF CANCER, 2019, 144 (11) :2683-2694